2017
DOI: 10.18632/aging.101228
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Abstract: We investigated the role of a single nucleotide polymorphism rs3764030 (G>A) within the human GRIN2B promoter in mental processing speed in healthy, cognitively intact, older adults. In vitro DNA-binding and reporter gene assays of different allele combinations in transfected cells showed that the A allele was a gain-of-function variant associated with increasing GRIN2B mRNA levels. We tested the hypothesis that individuals with A allele will have better memory performance (i.e. faster reaction times) in older… Show more

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Cited by 4 publications
(4 citation statements)
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References 48 publications
(57 reference statements)
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“…However, previous studies have reported that there are sequence variations in Gria1, Grin2B , and Creb in humans 76 79 . The polymorphisms of Grin2B have also been shown to be correlated with memory ability 76 , 77 . Whether these variants are related to social behaviors in humans remains to be explored.…”
Section: Discussionmentioning
confidence: 99%
“…However, previous studies have reported that there are sequence variations in Gria1, Grin2B , and Creb in humans 76 79 . The polymorphisms of Grin2B have also been shown to be correlated with memory ability 76 , 77 . Whether these variants are related to social behaviors in humans remains to be explored.…”
Section: Discussionmentioning
confidence: 99%
“…In the SCH subjects, the length of the microsatellite (GT) n repeat (rs3219790) within the GRIN2A promoter differed significantly from the controls and was associated with a change in transcriptional activity [32]. Similarly, the minor A allele of the c.-447-42G>A polymorphism (rs3764030) from the GRIN2B promoter was assigned using reporter gene assays as a gain-of-function variant associated with an increase in the GRIN2B mRNA levels [68]. The frequency of the A allele in the SCH subjects (0.294) was not significantly different (p-value = 0.1805) from that in the controls (0.203) and the gnomAD genomes frequency in the European population (0.190).…”
Section: Discussionmentioning
confidence: 99%
“…2014; Jiang et al . 2017; Pegasiou et al . 2020) and may also occur in dementias like AD (Verret et al .…”
Section: Figure Nmdar Subunit Diversity and Architecturementioning
confidence: 99%
“…Moreover, in rodent and monkey animal models, NMDAR antagonists or genetic reduction in NMDAR activity can evoke behavioural symptoms that mimic those observed in psychotic patients (Geyer & Moghaddam, 2002;Jones et al 2011). NMDAR hypofunction (of GluN2B-NMDAR in particular) is furthermore a key feature of age-related cognitive deficits (Piggott et al 1992;Magnusson et al 2010;Wang et al 2014;Jiang et al 2017;Pegasiou et al 2020) and may also occur in dementias like AD (Verret et al 2012). Finally, loss-of-function mutations in the GRIN1, GRIN2A and GRIN2B genes were found in patients suffering from a variety of neurodevelopmental disorders ranging from childhood encephalopathy, to intellectual disability or autism (e.g.…”
mentioning
confidence: 99%